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Research Abstracts Online
January 2010 - March 2011

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University of Minnesota Twin Cities
Medical School
Department of Pediatrics

PI: Anna Petryk

Genetic and Epigenetic Basis of Variable Craniofacial Defects in

Phenotypic outcome is determined by a set of transcriptionally active genes. Aside from genetic changes, the level of gene expression may be affected by epigenetic modifications that alter chromatin marks. Genes that are prone to epimutation are called "metastable epialleles.” By far the best-characterized chromatin modification of metastable epialleles is DNA methylation.

These researchers’ working hypothesis is that in utero exposure of Twsg1-deficient embryos to diets rich in methyl donors will facilitate the identification of epigenetic controllers and pathways that contribute to craniofacial defects. They are using whole-genome methylation profiling to identify methylation-sensitive loci in the craniofacial complex. The rationale for this aim is that successful completion of the proposed research will identify genes involved in craniofacial development that are epigenetically labile, and thus variably contributing to the severity of craniofacial disease depending on their methylation status.

Group Member

Brian Schmidt, Graduate Student